|
Autism Spectrum Disorders
|
0.600 |
Biomarker
|
disease |
BEFREE |
Our report of two missense variants affecting the normal localization of NLGN3 in a total of five affected individuals reinforces the involvement of the NLGN3 gene in a neurodevelopmental disorder characterized by ID and ASD.
|
31184401 |
2019 |
|
Autism Spectrum Disorders
|
0.600 |
Biomarker
|
disease |
BEFREE |
Among these genes are FMR1, CYFIP1 and NLGN3, all present at the synapse and reliably linked to ASD.
|
31705895 |
2019 |
|
Autism Spectrum Disorders
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The sleep disruptions in Nlgn3 KO rats are consistent with observations of sleep disturbances in ASD patients.
|
28958035 |
2017 |
|
Autism Spectrum Disorders
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Our results directly link Wnt/β-catenin signaling to the transcription of the Nlgn3 gene and support a functional role for the signaling pathway in the dysregulation of excitatory/inhibitory neuronal activity, as is observed in animal models of ASD.
|
29503438 |
2018 |
|
Autism Spectrum Disorders
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Here, we examined how mutations in the synaptic cell-adhesion molecule neuroligin-3 (Nlgn3) that have been documented in ASD impact relational memory and behavioral flexibility.
|
31827744 |
2019 |
|
Autism Spectrum Disorders
|
0.600 |
Biomarker
|
disease |
MGD |
|
|
|
|
Autism Spectrum Disorders
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Autism Spectrum Disorders
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recent studies reported that sequence polymorphisms in neuroligin-3 (NLGN3) and neuroligin-4 (NLGN4) genes have been linked to autism spectrum disorders indicating neuroligin genes as candidate targets in brain disorders.
|
18555979 |
2008 |
|
Autism Spectrum Disorders
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here we report mutations in two X-linked genes encoding neuroligins NLGN3 and NLGN4 in siblings with autism-spectrum disorders.
|
12669065 |
2003 |
|
Autism Spectrum Disorders
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Knock-in mice carrying a single rare point mutation of NLGN3 (NLGN3 R451C) discovered in the patients with ASDs display a deficit in social interaction and an enhancement of spatial learning and memory ability reminiscent of the clinical phenotype of ASDs.
|
27743928 |
2017 |
|
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
|
0.400 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
|
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 1 (finding)
|
0.400 |
GeneticVariation
|
disease |
UNIPROT |
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
|
12669065 |
2003 |
|
Autistic behavior
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism.
|
12669065 |
2003 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In humans, mutations in NLGN3 and NLGN4 are linked to autism and schizophrenia; NLGN2 missense variants are implicated in schizophrenia.
|
27865048 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in neuroligin-3 predispose to autism, but how such mutations affect synaptic function remains incompletely understood.
|
27725662 |
2017 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This mouse model carries the human R451C mutation in the neuroligin 3 (NL3) gene that has been associated with highly penetrant autism in a Swedish family.
|
28921757 |
2018 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genetic defects in neuroligin 3 (NL3), a member of the NL protein family, are associated with autism.
|
31849609 |
2019 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, genetic analysis of humans showed a mutation in the neuroligin 2 gene in schizophrenic patients, while mutations in neuroligin 3 or 4 genes were found in autism.
|
25149987 |
2014 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
These results indicate that mutations in NLGN3 and NLGN4 genes are responsible for at most a small fraction of autism cases and additional screenings in other autistic populations are needed to better determine the frequency with which mutations in NLGN3 and NLGN4 occur in autism.
|
15389766 |
2005 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our data thus suggest that different autism-associated neuroligin-3 mutations cause a common increase in acquired repetitive behaviors by impairing a specific striatal synapse and thereby provide a plausible circuit substrate for autism pathophysiology.
|
24995986 |
2014 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lastly, we identified differences in the dimerization capacity of autism-associated neuroligin mutants, and found that neuroligin 3 R471C mutants can form heterodimers with neuroligin 1.
|
22671294 |
2012 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutation screening in the Greek population and evaluation of NLGN3 and NLGN4X genes causal factors for autism.
|
23851596 |
2013 |
|
Autistic Disorder
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In the preliminary study of specific exons of NLGN3 and NLGN4 genes, we identified the p.K378R substitution (c.1597 A > G) in exon 5 of the NLGN4 gene in a patient who was found to have mild autism and normal IQ at 3 years of age.
|
19645625 |
2009 |
|
Autistic Disorder
|
0.500 |
Biomarker
|
disease |
BEFREE |
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism.
|
16648374 |
2006 |